Linked Data
dbSNP Id:
rs3021084
ExAC:
22:42522879 G / A
gnomAD v2:
22-42522879-G-A
gnomAD v3:
22-42126877-G-A
gnomAD v4:
22-42126877-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42126877G>A , CM000684.2:g.42126877G>A | GRCh38 |
| NC_000022.10:g.42522879G>A , CM000684.1:g.42522879G>A | GRCh37 |
| NC_000022.9:g.40852823G>A | NCBI36 |
| NG_008376.3:g.8115C>T | |
| NG_008376.4:g.8934C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360124.10:c.1087C>T | ENSP00000353241.6:n.1087C>T | |
| ENST00000645361.2:c.1289C>T MANE Select | ENSP00000496150.1:p.Pro430Leu | |
| ENST00000359033.4:c.1136C>T | ENSP00000351927.4:p.Pro379Leu | |
| ENST00000360124.9:c.907C>T | ENSP00000353241.5:n.907C>T | |
| ENST00000360608.9:c.1289C>T | ENSP00000353820.5:p.Pro430Leu | |
| ENST00000389970.7:c.1280C>T | ENSP00000374620.4:p.Pro427Leu | |
| ENST00000488442.1:n.2013C>T | ||
| NM_000106.5:c.1289C>T | NP_000097.3:p.Pro430Leu | |
| NM_001025161.2:c.1136C>T | NP_001020332.2:p.Pro379Leu | |
| XM_011529966.1:c.1289C>T | XP_011528268.1:p.Pro430Leu | |
| XM_011529967.1:c.1289C>T | XP_011528269.1:p.Pro430Leu | |
| XM_011529968.1:c.1289C>T | XP_011528270.1:p.Pro430Leu | |
| XM_011529969.1:c.1145C>T | XP_011528271.1:p.Pro382Leu | |
| XM_011529970.1:c.1136C>T | XP_011528272.1:p.Pro379Leu | |
| XM_011529971.1:c.1145C>T | XP_011528273.1:p.Pro382Leu | |
| NM_000106.6:c.1289C>T MANE Select | NP_000097.3:p.Pro430Leu | |
| NM_001025161.3:c.1136C>T | NP_001020332.2:p.Pro379Leu |